ClinVar Miner

Submissions for variant NM_022765.4(MICAL1):c.400G>A (p.Asp134Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002583641 SCV002948073 likely benign not provided 2024-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064495 SCV003951826 uncertain significance not specified 2023-04-20 criteria provided, single submitter clinical testing The c.400G>A (p.D134N) alteration is located in exon 3 (coding exon 2) of the MICAL1 gene. This alteration results from a G to A substitution at nucleotide position 400, causing the aspartic acid (D) at amino acid position 134 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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